We report the case of a 13-year-old patient, female, born in Northern Italy, who presented with an acute episode of aphasia, lasting about 15 min, accompanied by left arm dysesthesia. The state of consciousness remained preserved throughout the episode. After a first clinical evaluation at second-level hospital, the patient was sent to our...
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2022 (v1)PublicationUploaded on: February 14, 2024
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2022 (v1)Publication
Deficiency of Adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disorder presenting with a broad spectrum of clinical manifestations, including immunodeficiency, vasculopathy and hematologic disease. Biallelic mutations in ADA2 gene have been associated with a decreased ADA2 activity, leading to reduction in deamination of adenosine...
Uploaded on: January 31, 2024 -
2020 (v1)Publication
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Uploaded on: March 3, 2024 -
2022 (v1)Publication
The TREX1 exonuclease degrades DNA to prevent aberrant nucleic-acid sensing through the cGAS-STING pathway, and dominant Aicardi-Goutieres Syndrome type 1 (AGS1) represents one of numerous TREX1-related autoimmune diseases. Monoallelic TREX1 mutations were identified in patients showing early-onset cerebrovascular disease, ascribable to small...
Uploaded on: February 4, 2024 -
2021 (v1)Publication
Objective Post-varicella arterial ischemic stroke (AIS) is considered an uncommon cause of pediatric stroke that is considered a self-limiting, monophasic disease. However, in a subset of patients, disease recurs; the prevalence of vasculopathy or AIS recurrence, severity of clinical outcomes, and standardized therapies have not been well...
Uploaded on: March 3, 2024 -
2020 (v1)Publication
Adenosine deaminase 2 deficiency (DADA2) is an autoinflammatory disease characterized by inflammatory vasculopathy, early strokes associated often with hypogammaglobulinemia. Pure red cell aplasia, thrombocytopenia, and neutropenia have been reported. The defect is due to biallelic loss of function of ADA2 gene, coding for a protein known to...
Uploaded on: April 14, 2023 -
2022 (v1)Publication
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection may result in a severe pneumonia associated with elevation of blood inflammatory parameters, reminiscent of cytokine storm syndrome. Steroidal anti-inflammatory therapies have shown efficacy in reducing mortality in critically ill patients; however, the mechanisms by which...
Uploaded on: February 7, 2024